Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Disease |
Score |
Actions |
|
CLCN4
(HGNC:2022)
|
intellectual disability, X-linked 49
(MONDO_0010250)
|
Strong
|
|
|
CLCN2
(HGNC:2020)
|
epilepsy
(MONDO_0005027)
|
Disputed
|
|
|
B3GLCT
(HGNC:20207)
|
Peters plus syndrome
(MONDO_0009856)
|
Definitive
|
|
|
CLCN1
(HGNC:2019)
|
myotonia congenita, autosomal recessive
(MONDO_0009715)
|
Definitive
|
|
|
SLC35C1
(HGNC:20197)
|
leukocyte adhesion deficiency type II
(MONDO_0009953)
|
Strong
|
|
|
POLR1C
(HGNC:20194)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Moderate
|
|
|
TMEM260
(HGNC:20185)
|
structural heart defects and renal anomalies syndrome
(MONDO_0044321)
|
Strong
|
|
|
HECTD1
(HGNC:20157)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
HECTD1
(HGNC:20157)
|
neural tube defect
(MONDO_0018075)
|
Limited
|
|
|
CHD8
(HGNC:20153)
|
intellectual developmental disorder with autism and macrocephaly
(MONDO_0014017)
|
Strong
|
|
|
CHD8
(HGNC:20153)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
CHD8
(HGNC:20153)
|
autism
(MONDO_0005260)
|
Strong
|
|
|
CHD8
(HGNC:20153)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
SLC17A8
(HGNC:20151)
|
autosomal dominant nonsyndromic hearing loss 25
(MONDO_0011568)
|
Moderate
|
|
|
GPR143
(HGNC:20145)
|
ocular albinism
(MONDO_0017304)
|
Definitive
|
|
|
TEDC1
(HGNC:20127)
|
microcephaly
(MONDO_0001149)
|
Limited
|
|
|
AHNAK2
(HGNC:20125)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Limited
|
|
|
AK7
(HGNC:20091)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
TTC8
(HGNC:20087)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
PCSK9
(HGNC:20001)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Moderate
|
|